Canonical Allele Identifier: CA3064432

Gene: BBS7

Linked Data

• ClinVar Variation Id: 281626
• ClinVar RCV Id: RCV000424630 ; RCV000820069 ; RCV001075009 ; RCV001770227 ; RCV003228920 ; RCV003409402
• dbSNP Id: rs760165634
• ExAC: 4:122775861 CCTCT / C
• gnomAD v2: 4-122775861-CCTCT-C
• gnomAD v3: 4-121854706-CCTCT-C
• gnomAD v4: 4-121854706-CCTCT-C
• MyVariant Identifiers: chr4:g.122775862_122775865del (hg19) ; chr4:g.121854708_121854711del (hg38) ; chr4:g.121854707_121854710del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854709_121854712del , CM000666.2:g.121854709_121854712del	GRCh38
NC_000004.11:g.122775864_122775867del , CM000666.1:g.122775864_122775867del	GRCh37
NC_000004.10:g.122995314_122995317del	NCBI36
NG_009111.1:g.20778_20781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.712_715del MANE Select	ENSP00000264499.4:p.Arg238GlufsTer?
ENST00000264499.8:c.712_715del	ENSP00000264499.4:p.Arg238GlufsTer?
ENST00000506636.1:c.712_715del	ENSP00000423626.1:p.Arg238GlufsTer?
NM_018190.3:c.712_715del	NP_060660.2:p.Arg238GlufsTer?
NM_176824.2:c.712_715del	NP_789794.1:p.Arg238GlufsTer?
XM_005263106.2:c.715_718del	XP_005263163.1:p.Arg239GlufsTer?
XM_011532079.1:c.760_763del	XP_011530381.1:p.Arg254GlufsTer?
XM_011532080.1:c.757_760del	XP_011530382.1:p.Arg253GlufsTer?
XM_011532081.1:c.760_763del	XP_011530383.1:p.Arg254GlufsTer?
XM_005263106.4:c.715_718del	XP_005263163.1:p.Arg239GlufsTer?
XM_011532079.3:c.760_763del	XP_011530381.1:p.Arg254GlufsTer?
XM_011532080.3:c.757_760del	XP_011530382.1:p.Arg253GlufsTer?
XM_011532081.3:c.760_763del	XP_011530383.1:p.Arg254GlufsTer?
XM_017008357.2:c.712_715del	XP_016863846.1:p.Arg238GlufsTer?
XM_017008358.2:c.715_718del	XP_016863847.1:p.Arg239GlufsTer?
NM_176824.3:c.712_715del MANE Select	NP_789794.1:p.Arg238GlufsTer?
NM_018190.4:c.712_715del	NP_060660.2:p.Arg238GlufsTer?